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Oculodentodigital dysplasia
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It aff...
Sparad:
| I publikationen: | Indian J Ophthalmol |
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| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Medknow Publications & Media Pvt Ltd
2016
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4869463/ https://ncbi.nlm.nih.gov/pubmed/27146935 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0301-4738.180191 |
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